Erythropoietic protoporphyria (EPP) is an autosomal dominant condition due to decreased activity of ferrochelatase. The disease is characterized by a wide range of photocutaneous changes and occasionally by liver disease. The level of protoporphyin is raised in erythkocytes and it may also be increased in the feces. We report herein a case of EPP present in a family which was diagnosed by a high free erythrocyte protoporphyrin (FEP) count.
Erythrocytes ; Feces ; Ferrochelatase ; Humans ; Liver Diseases ; Protoporphyria, Erythropoietic*

Erythropoietic protoporphyria (EPP) is an autosomal dominant condition due to decreased activity of ferrochelatase. The disease is characterized by a wide range of photocutaneous changes and occasionally by liver disease. The level of protoporphyin is raised in erythkocytes and it may also be increased in the feces. We report herein a case of EPP present in a family which was diagnosed by a high free erythrocyte protoporphyrin (FEP) count.
Erythrocytes ; Feces ; Ferrochelatase ; Humans ; Liver Diseases ; Protoporphyria, Erythropoietic*

Erythropoietic protoporphyria(EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell free protoporphyrin levels. We report herein a case of EPP which occurred in a 44-year-old man and his family. He had suffered from immediate photosensitivity since he was 4 years old. He was presented with burning, erythema, scars and waxy thickening of the sun-exposed skin. Red cell free protoporphyrin level was elevated and urinary porphyrins were normal. Histopathologically, homogeneous eosinophilic materials that stained with PAS were deposited in perivascular area of upper dermis. He was managed with light restriction and sunscreen.
Adult ; Burns ; Child, Preschool ; Cicatrix ; Dermis ; Eosinophils ; Erythema ; Ferrochelatase ; Humans ; Light ; Metabolism ; Porphyrins ; Protoporphyria, Erythropoietic* ; Skin

Erythropoietic protoporphyria (EPP), caused by decreased activity of the enzyme ferrochelatase, is characterized clinically by burning photosensitivity beginning from childhood, and chemically by excessive amounts of red blood cell protoporphyrins. 1-10% of EPP patients develop potentially fatal protoporphyric hepatic failure. The diagnosis of EPP had been missed in many cases when traditional solvent extraction qualitative screening test was used for blood porphyrins, and use of fluorescence microscopy improved this problem. We report a case of EPP screened by fluorescence microscopy of erythrocytes in a 50-year-old man complaining of photosensitivity. We recommend fluorescence microscopy could be the screening test of choice for the detection of increased red blood cell porphyrins.
Burns ; Diagnosis ; Erythrocytes ; Ferrochelatase ; Fluorescence* ; Humans ; Liver Failure ; Mass Screening ; Microscopy, Fluorescence* ; Middle Aged ; Porphyrins ; Protoporphyria, Erythropoietic* ; Protoporphyrins

Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that is characterized by accumulation of protoporphyrin in the blood, erythrocytes, and tissues, and cutaneous manifestations of photosensitivity, all resulting from abnormalities in ferrochelatase (FECH) activity due to mutations in the FECH gene. Protoporphyrin is excreted by the liver, and excess protoporphyrin leads to cholelithiasis with obstructive episodes and chronic liver disease, finally progressing to liver cirrhosis. Patients with end-stage EPP-associated liver disease require liver transplantation. We describe here a 31-year-old male patient with EPP who experienced acute-on-chronic liver failure and underwent deceased-donor liver transplantation. Surgical and postoperative care included specific shielding from exposure to ultraviolet radiation to prevent photosensitivity-associated adverse effects. The patient recovered uneventfully and was doing well 24 months after transplantation. Future prevention and treatment of liver disease are discussed in detail.
Acute Disease ; Adult ; End Stage Liver Disease/etiology/pathology/*therapy ; Ferrochelatase/genetics/metabolism ; Humans ; Liver Cirrhosis/diagnosis ; *Liver Transplantation ; Male ; Mutation ; Protoporphyria, Erythropoietic/complications/*diagnosis/pathology

Erythropoietic protoporphyria is a genetic disorder due to a deficiency of ferrochelatase resulting in excessive accumulation and excretion of protoporphyrin. The predominant clinical feature is photosensitivity. Severe hepatic failure occurs in a small percentage of patients, and neurological symptoms are very rare. We report a case of erythropoietic protoporphyria associated with severe hepatic dysfunction and neurological symptoms. A 9-year-old girl presented with severe abdominal pain, nausea, weakness and pain of extremities, and urinary retention. Ultrasonogram and abdominal CT scanning revealed a diffuse infiltrated and enlarged liver. Liver biopsy showed deposition of dense dark brown pigment within the bile, hepatocytes and Kupffer cells. Plus, dense dark brown deposits gave a red birefringent under polarize light. Porphyrin studies demonstrated markedly elevated serum free erythrocyte protoporphyrin. This girl was diagnosed as erythropoietic protoporphyria with severe liver dysfunction and neurological symptoms.
Abdominal Pain ; Bile ; Biopsy ; Child ; Erythrocytes ; Extremities ; Female ; Ferrochelatase ; Hepatocytes ; Hepatomegaly ; Humans ; Kupffer Cells ; Liver Diseases* ; Liver Failure ; Liver* ; Nausea ; Protoporphyria, Erythropoietic* ; Tomography, X-Ray Computed ; Ultrasonography ; Urinary Retention

Erythropoietic protoporphyria (EPP) is a rare disorder of heme biosynthesis caused by mutations in the gene encoding the enzyme ferrochelatase. In EPP, deficient ferrochelatase activity leads to the excessive production and biliary excretion of protoporphyrin (PP). The major clinical features of EPP are photosensitivity and hepatobiliary disease that may progress to severe liver disease, that are caused by the toxicity of PP. EPP-related liver disease has been treated medically or surgically including liver transplantation. We described a 20-year-old male with severe liver disease who was diagnosed with EPP based on clinical and laboratory findings. He was treated with cholestyramine resin. Six months after the treatment, he was doing well without any abdominal pain or photosensitivity.
Bilirubin/blood ; Cholestyramine Resin/*therapeutic use ; Edema/complications ; Erythema/complications ; Ferrochelatase/genetics/metabolism ; Humans ; Liver Diseases/complications/*diagnosis/pathology ; Male ; Protoporphyria, Erythropoietic/complications/*diagnosis/drug therapy ; Protoporphyrins/metabolism ; Young Adult

AIMTo investigate the possible role of rate-limiting enzyme of heme metabolism and globin in the development of the low hemoglobin (Hb), red blood (cell) count (RBC) and hematocrit (Hct) after long-term exercise, and effect of nutrition supplement on sports anemia.

METHODSMale Wistar rats were randomly assigned to three groups (n = 10): control (C), exercise (P) and exercise + nutrition (G). Animals in the P and G groups started treadmill running at 30 m/min, 0% grade, 1 min/time. Running time was gradually increased with 2 min/time during initial 5 weeks and final 4 weeks. In addition, running frequency was 2 times/day except initial 2 weeks. At the end of eleventh week, gene expression of 5-aminolevulinate synthase (ALAS), ferrochelatase, alpha-globin and beta-globin in bone marrow were measured with RT-PCR. Mean-while heme oxygenase 1 (HO-1) activity in liver was measured with immunohistochemical method.

RESULTSEleven weeks of exercise induced a significant increase in HO-1 and a significant increase in gene expression of beta-globin (P < 0.01, P < 0.05, respectively). Treatment with anti-sports anemia compound dosage led to no significant differences in rate-limiting enzyme of heme metabolism and globin in the exercised rats. The G group had a significantly higher HO-1 level in liver than the C group (P < 0.01). These finds showed that exercise was associated with no significant difference in heme synthetase and alpha-globin gene expression, and significant difference in heme catabolic enzyme and beta-globin gene expression.

CONCLUSIONThe increase of HO-1 activity in liver might be one of the causes of the lower Hb, RBC and Hct status in exercised rats.

5-Aminolevulinate Synthetase ; genetics ; metabolism ; Anemia ; etiology ; metabolism ; physiopathology ; Animals ; Dietary Supplements ; Ferrochelatase ; genetics ; metabolism ; Gene Expression Regulation, Enzymologic ; physiology ; Globins ; metabolism ; Heme Oxygenase (Decyclizing) ; genetics ; metabolism ; Hydroxymethylbilane Synthase ; genetics ; metabolism ; Male ; Motor Activity ; Physical Conditioning, Animal ; adverse effects ; Random Allocation ; Rats ; Rats, Wistar